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JOURNAL OF PEDIATRIC GENETICS : Impact Factor & More

eISSN: 2146-460XpISSN: 2146-4596
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JOURNAL OF PEDIATRIC GENETICS Journal Specifications

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Overview
Publisher GEORG THIEME VERLAG KG
Language English
Frequency Quarterly
General Details
LanguageEnglish
FrequencyQuarterly
Publication Start Year2012
Publisher URLVisit website
Website URLVisit website
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Recently Published Papers in JOURNAL OF PEDIATRIC GENETICS

Fanconi-Bickel Syndrome with Variable Phenotypes: A Case Series Highlighting a Successful Pregnancy Outcome from a Tertiary Care Center in North India
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Lesch-Nyhan Disease a Treatable Mimicker of Dyskinetic Cerebral Palsy in Boys: Insights from an Indian Series of Six Cases with Report of Four Novel Variants
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A Case Report of Shwachman-Diamond Syndrome and Literature Review
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Ponto-bulbar Palsy, Sensorineural Hearing Loss, Tongue Fasciculation: Molecular Study & Review of Indian Cases
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Effects of Intensive Physical Therapy and Two-Year Follow-Up Results in a Child with Kleefstra Syndrome: A Case Report
  • 19 Dec 2025
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Fanconi-Bickel Syndrome with Variable Phenotypes: A Case Series Highlighting a Successful Pregnancy Outcome from a Tertiary Care Center in North India
  • 29 Jan 2026
  • Journal of Pediatric Genetics
A Study of Diagnostic Experience and Impacts of Rare Disease Diagnosis In Children and Their Families: Insights from India
  • 29 Jan 2026
  • Journal of Pediatric Genetics
Lesch-Nyhan Disease a Treatable Mimicker of Dyskinetic Cerebral Palsy in Boys: Insights from an Indian Series of Six Cases with Report of Four Novel Variants
  • 29 Jan 2026
  • Journal of Pediatric Genetics
A Case Report of Shwachman-Diamond Syndrome and Literature Review
  • 29 Jan 2026
  • Journal of Pediatric Genetics
Ponto-bulbar Palsy, Sensorineural Hearing Loss, Tongue Fasciculation: Molecular Study & Review of Indian Cases
  • 19 Dec 2025
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Effects of Intensive Physical Therapy and Two-Year Follow-Up Results in a Child with Kleefstra Syndrome: A Case Report
  • 19 Dec 2025
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